rs1934179
This is a intron variant variant in the DGKK gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
hypospadias
van der Zanden LF et al. “Common variants in DGKK are strongly associated with risk of hypospadias.” Nature Genetics 43(1):48-50 (2011)
Allele A
OR 2.60
p 3.0e-21
N 930
Small GWAS
European
About DGKK
The protein encoded by this gene is an enzyme that phosphorylates diacylglycerol, converting it to phosphatidic acid. The encoded protein is a membrane protein and is inhibited by hydrogen peroxide. Variations in this gene have been associated with hypospadias. [provided by RefSeq, Mar 2011]
View all DGKK variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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